Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000396.3(CTSK):c.990A>G (p.Ter330Trp) | 1513 | CTSK | Pathogenic | 74315301 | RCV000008931; | N | MedGen:C0238402,OMIM:265800,ORPHA:763,SNOMED CT:89647000 | 1 | 150769275 | 150769275 | NM_000396.3:c.990A>G | NP_000387.1:p.Ter330Trp | NC_000001.10:g.150769275T>C | OMIM Allelic Variant:601105.0001 | C0238402 265800 Pyknodysostosis | | |
NM_000396.3(CTSK):c.926T>C (p.Leu309Pro) | 1513 | CTSK | Likely pathogenic;Pathogenic | 29001685 | RCV000008937; | N | MedGen:C0238402,OMIM:265800,ORPHA:763,SNOMED CT:89647000 | 1 | 150769339 | 150769339 | NM_000396.3:c.926T>C | NP_000387.1:p.Leu309Pro | NC_000001.10:g.150769339A>G | OMIM Allelic Variant:601105.0007 | C0238402 265800 Pyknodysostosis | | |
NM_000396.3(CTSK):c.830C>T (p.Ala277Val) | 1513 | CTSK | Likely pathogenic;Pathogenic | 74315304 | RCV000008934; | N | MedGen:C0238402,OMIM:265800,ORPHA:763,SNOMED CT:89647000 | 1 | 150771704 | 150771704 | NM_000396.3:c.830C>T | NP_000387.1:p.Ala277Val | NC_000001.10:g.150771704G>A | OMIM Allelic Variant:601105.0004 | C0238402 265800 Pyknodysostosis | | |
NM_000396.3(CTSK):c.721C>T (p.Arg241Ter) | 1513 | CTSK | Likely pathogenic;Pathogenic | 74315303 | RCV000008933; | N | MedGen:C0238402,OMIM:265800,ORPHA:763,SNOMED CT:89647000 | 1 | 150772083 | 150772083 | NM_000396.3:c.721C>T | NP_000387.1:p.Arg241Ter | NC_000001.10:g.150772083G>A | OMIM Allelic Variant:601105.0003 | C0238402 265800 Pyknodysostosis | | |
NM_000396.3(CTSK):c.436G>C (p.Gly146Arg) | 1513 | CTSK | Pathogenic | 74315302 | RCV000008932; | N | MedGen:C0238402,OMIM:265800,ORPHA:763,SNOMED CT:89647000 | 1 | 150776679 | 150776679 | NM_000396.3:c.436G>C | NP_000387.1:p.Gly146Arg | NC_000001.10:g.150776679C>G | OMIM Allelic Variant:601105.0002 | C0238402 265800 Pyknodysostosis | | |
NM_000396.3(CTSK):c.236G>A (p.Gly79Glu) | 1513 | CTSK | Pathogenic | 74315305 | RCV000008935; | N | MedGen:C0238402,OMIM:265800,ORPHA:763,SNOMED CT:89647000 | 1 | 150778585 | 150778585 | NM_000396.3:c.236G>A | NP_000387.1:p.Gly79Glu | NC_000001.10:g.150778585C>T | OMIM Allelic Variant:601105.0005 | C0238402 265800 Pyknodysostosis | | |
NM_000396.3(CTSK):c.154A>T (p.Lys52Ter) | 1513 | CTSK | Pathogenic | 74315306 | RCV000008936; | N | MedGen:C0238402,OMIM:265800,ORPHA:763,SNOMED CT:89647000 | 1 | 150778667 | 150778667 | NM_000396.3:c.154A>T | NP_000387.1:p.Lys52Ter | NC_000001.10:g.150778667T>A | OMIM Allelic Variant:601105.0006 | C0238402 265800 Pyknodysostosis | | |